HXD12_HUMAN
ID HXD12_HUMAN Reviewed; 270 AA.
AC P35452; B5MCP0; Q0VAD7; Q0VAD8; Q9NS03;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 22-SEP-2009, sequence version 3.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Homeobox protein Hox-D12;
DE AltName: Full=Homeobox protein Hox-4H;
GN Name=HOXD12; Synonyms=HOX4H;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Miwa N., Yoshiura K., Kantaputra P.K., Soeda E., Niikawa N.;
RT "The role of HOXD11 and HOXD12 for the mesomelic dysplasia Kantaptra
RT type.";
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLN-186.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 202-267.
RX PubMed=1675198; DOI=10.1016/0888-7543(91)90482-t;
RA D'Esposito M., Morelli F., Acampora D., Migliaccio E., Simeone A.,
RA Boncinelli E.;
RT "EVX2, a human homeobox gene homologous to the even-skipped segmentation
RT gene, is localized at the 5' end of HOX4 locus on chromosome 2.";
RL Genomics 10:43-50(1991).
CC -!- FUNCTION: Sequence-specific transcription factor which is part of a
CC developmental regulatory system that provides cells with specific
CC positional identities on the anterior-posterior axis.
CC -!- INTERACTION:
CC P35452; Q13077: TRAF1; NbExp=3; IntAct=EBI-10206752, EBI-359224;
CC P35452-2; Q08043: ACTN3; NbExp=3; IntAct=EBI-17244356, EBI-2880652;
CC P35452-2; Q9NPB3: CABP2; NbExp=3; IntAct=EBI-17244356, EBI-12011224;
CC P35452-2; Q86UW9: DTX2; NbExp=3; IntAct=EBI-17244356, EBI-740376;
CC P35452-2; Q92915-2: FGF14; NbExp=3; IntAct=EBI-17244356, EBI-12836320;
CC P35452-2; O43559: FRS3; NbExp=3; IntAct=EBI-17244356, EBI-725515;
CC P35452-2; Q13064: MKRN3; NbExp=3; IntAct=EBI-17244356, EBI-2340269;
CC P35452-2; O15160: POLR1C; NbExp=3; IntAct=EBI-17244356, EBI-1055079;
CC P35452-2; Q7Z6R9: TFAP2D; NbExp=3; IntAct=EBI-17244356, EBI-11952651;
CC P35452-2; Q6DKK2: TTC19; NbExp=3; IntAct=EBI-17244356, EBI-948354;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P35452-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P35452-2; Sequence=VSP_056816;
CC -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
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DR EMBL; AF154915; AAF79044.1; -; Genomic_DNA.
DR EMBL; AC009336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471058; EAX11094.1; -; Genomic_DNA.
DR EMBL; BC121103; AAI21104.1; -; mRNA.
DR EMBL; BC121104; AAI21105.1; -; mRNA.
DR CCDS; CCDS46456.1; -. [P35452-1]
DR PIR; C39065; C39065.
DR RefSeq; NP_067016.3; NM_021193.3. [P35452-1]
DR AlphaFoldDB; P35452; -.
DR SMR; P35452; -.
DR BioGRID; 109478; 18.
DR IntAct; P35452; 10.
DR STRING; 9606.ENSP00000385586; -.
DR iPTMnet; P35452; -.
DR PhosphoSitePlus; P35452; -.
DR BioMuta; HOXD12; -.
DR DMDM; 259016345; -.
DR MassIVE; P35452; -.
DR PaxDb; P35452; -.
DR PeptideAtlas; P35452; -.
DR PRIDE; P35452; -.
DR ProteomicsDB; 55064; -. [P35452-1]
DR Antibodypedia; 10810; 250 antibodies from 32 providers.
DR DNASU; 3238; -.
DR Ensembl; ENST00000406506.4; ENSP00000385586.2; ENSG00000170178.7. [P35452-1]
DR GeneID; 3238; -.
DR KEGG; hsa:3238; -.
DR MANE-Select; ENST00000406506.4; ENSP00000385586.2; NM_021193.4; NP_067016.3.
DR UCSC; uc010zev.2; human. [P35452-1]
DR CTD; 3238; -.
DR DisGeNET; 3238; -.
DR GeneCards; HOXD12; -.
DR HGNC; HGNC:5135; HOXD12.
DR HPA; ENSG00000170178; Tissue enhanced (intestine, seminal vesicle).
DR MIM; 142988; gene.
DR neXtProt; NX_P35452; -.
DR OpenTargets; ENSG00000170178; -.
DR PharmGKB; PA29409; -.
DR VEuPathDB; HostDB:ENSG00000170178; -.
DR eggNOG; KOG0487; Eukaryota.
DR GeneTree; ENSGT00940000159938; -.
DR HOGENOM; CLU_087968_0_0_1; -.
DR InParanoid; P35452; -.
DR OMA; FAQGAPW; -.
DR OrthoDB; 1154178at2759; -.
DR PhylomeDB; P35452; -.
DR TreeFam; TF351604; -.
DR PathwayCommons; P35452; -.
DR SignaLink; P35452; -.
DR SIGNOR; P35452; -.
DR BioGRID-ORCS; 3238; 10 hits in 1086 CRISPR screens.
DR GeneWiki; HOXD12; -.
DR GenomeRNAi; 3238; -.
DR Pharos; P35452; Tbio.
DR PRO; PR:P35452; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P35452; protein.
DR Bgee; ENSG00000170178; Expressed in vagina and 13 other tissues.
DR ExpressionAtlas; P35452; baseline and differential.
DR Genevisible; P35452; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0007389; P:pattern specification process; IEA:Ensembl.
DR GO; GO:0001501; P:skeletal system development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..270
FT /note="Homeobox protein Hox-D12"
FT /id="PRO_0000200238"
FT DNA_BIND 202..261
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 102..122
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 193..270
FT /note="LPWGAAPGRARKKRKPYTKQQIAELENEFLVNEFINRQKRKELSNRLNLSDQ
FT QVKIWFQNRRMKKKRVVLREQALALY -> KRCPCSPGRFGPGWEVGFKGECKGR (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056816"
FT VARIANT 186
FT /note="R -> Q (in dbSNP:rs35817516)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_071211"
FT CONFLICT 33..47
FT /note="GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1;
FT AAF79044)"
FT /evidence="ECO:0000305"
FT CONFLICT 50
FT /note="P -> S (in Ref. 4; AAI21105)"
FT /evidence="ECO:0000305"
FT CONFLICT 62..64
FT /note="QPA -> TC (in Ref. 1; AAF79044)"
FT /evidence="ECO:0000305"
FT CONFLICT 81..84
FT /note="GPLG -> ASR (in Ref. 1; AAF79044)"
FT /evidence="ECO:0000305"
FT CONFLICT 193..201
FT /note="LPWGAAPGR -> KRCPCSPGRPAVGGGPGE (in Ref. 1;
FT AAF79044)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 270 AA; 29031 MW; 224D53783405A162 CRC64;
MCERSLYRAG YVGSLLNLQS PDSFYFSNLR PNGGQLAALP PISYPRGALP WAATPASCAP
AQPAGATAFG GFSQPYLAGS GPLGLQPPTA KDGPEEQAKF YAPEAAAGPE ERGRTRPSFA
PESSLAPAVA ALKAAKYDYA GVGRATPGST TLLQGAPCAP GFKDDTKGPL NLNMTVQAAG
VASCLRPSLP DGLPWGAAPG RARKKRKPYT KQQIAELENE FLVNEFINRQ KRKELSNRLN
LSDQQVKIWF QNRRMKKKRV VLREQALALY
